Khatwa Umakanth Amabalalsa, Dy Fei Jamie
Division of Respiratory and Sleep Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA,
Indian J Pediatr. 2015 Sep;82(9):841-51. doi: 10.1007/s12098-015-1814-3. Epub 2015 Jul 23.
Neuromuscular disorders comprise a phenotypically diverse group of inherited and acquired diseases; however, they share common pathophysiologic mechanisms which produce significant respiratory complications. Respiratory and bulbar muscle weakness gives rise to ineffective cough, swallowing dysfunction results in aspiration-related lung disease, and abnormal muscle tone produces chest wall deformities - all of which ultimately leads to repeated chest infections and chronic respiratory failure. In this article, the authors describe the respiratory manifestations of neuromuscular disease and their underlying pathophysiological mechanisms. This review also highlights the diagnostic and management tools recommended for acute and chronic care. Aggressive pulmonary management is the most impactful at reducing the overall morbidity and improving the quality of life of children with neuromuscular disorders, at least while definitive molecular and gene replacement therapies remain elusive.
神经肌肉疾病包括一组表型多样的遗传性和获得性疾病；然而，它们具有共同的病理生理机制，会导致严重的呼吸并发症。呼吸和延髓肌无力导致咳嗽无力，吞咽功能障碍导致与误吸相关的肺部疾病，异常肌张力导致胸壁畸形——所有这些最终都会导致反复的肺部感染和慢性呼吸衰竭。在本文中，作者描述了神经肌肉疾病的呼吸表现及其潜在的病理生理机制。本综述还强调了推荐用于急性和慢性护理的诊断和管理工具。积极的肺部管理对于降低总体发病率和改善神经肌肉疾病患儿的生活质量最具影响力，至少在确定的分子和基因替代疗法仍然难以实现的情况下如此。
